Ever since Elizabeth was very young, she was a sickly child. Her teachers and classmates were familiar with her chronic cough. They knew not to worry about her coughing fits; this was just Elizabeth’s norm. As her mother, though, I knew this was anything but normal.
We visited many specialists, but they always dismissed her chronic cough and constant infections as asthma. That answer never satisfied me. I knew plenty of asthmatic kids. They didn’t have constant bouts of bronchitis and pneumonia or a chronic cough. The symptoms seemed different to me, and I never felt at ease with Elizabeth’s asthma diagnosis.
Just as I accepted that I wasn’t going to receive a satisfactory explanation for Elizabeth’s health issues, she had a severe asthma exacerbation that changed everything. In June 2020, Elizabeth was sitting at a computer doing virtual learning when she suddenly began having breathing difficulties. She had never had an exacerbation like that before, and I rushed her to the hospital. As I explained her health history to the ER doctor, he was alarmed. He was the first physician to not be content with explaining away her symptoms. He told me he knew this was something different than asthma.
In shock that a medical professional finally heard what I was saying, I watched in disbelief as he sprang into action. He immediately consulted with pulmonology, which was a turning point for Elizabeth. Throughout the next several days of her hospitalization, the puzzle pieces that had been separated for so long began to come together.
The pulmonologist explained to me he wanted Elizabeth to undergo a sweat test to rule out cystic fibrosis. I sat in disbelief. This was the first time in her nine years of life that anyone had ever mentioned cystic fibrosis. I flashed back to my youth when my swim team would fundraise for children with cystic fibrosis. In my mind, this diagnosis was something that parents found out when their children were born. How could I just now hear that my daughter may potentially have it?!
After the initial shock, my husband and I agreed to the sweat test. Exhausted from her hospitalization, Elizabeth found the sweat test to be very uncomfortable. The test was negative for cystic fibrosis. We went home relieved but confused.
The next year was filled with bronchoscopies, hospitalizations, potential diagnoses, and unanswered questions. I began to research cystic fibrosis and saw how many similarities Elizabeth had to those with the disease. While it was frustrating to know that Elizabeth didn’t meet the clinical criteria for a CF diagnosis, I was thankful for a pulmonology team who was working with me to find a diagnosis for Elizabeth.
In May 2021, Elizabeth’s pulmonologist discovered through a bronchoscopy biopsy that she had a gene that was linked to CF. She was diagnosed with a CFTR-related disorder. Thankful to have a diagnosis now (even if it was an inconclusive one), my husband and I worked with the pulmonologist to continue to advocate for Elizabeth. He instructed us to start CPT and prescribed a therapy vest for her. He also warned us that our insurance company may not cover the vest cost because she didn’t have a CF diagnosis.
And our pulmonologist was right … they didn’t. Hillrom, a vest manufacturer, miraculously allowed Elizabeth to have the vest for a year without any payment. They appealed to our insurance company over and over again. It was not until a scan revealed that Elizabeth had developed bronchiectasis that the insurance company finally covered the cost of the vest.
We began to see changes in Elizabeth with the assistance of the vest and medication. Her cough was less frequent, and her lung functioning was better. She still had frequent infections, though, and a second bronchoscopy found Pseudomonas growing. We began another battle to treat that infection aggressively. After many antibiotics, including 28 days of Tobramycin, we were thankfully able to eradicate the Pseudomonas.
For those two years, it was like Elizabeth was frozen in time. She didn’t grow even though we were constantly working on her nutrition. She also had other health issues and procedures unrelated to her lungs, including open heart surgery and a lumbar puncture. She was a fighter through it all and maintained a positive attitude. It is painful as a mother to watch your child suffer. Through it all though, God gave our family the peace that surpasses all understanding and helped us to remain calm.
As the hospitalizations finally decreased and Elizabeth started to improve, I felt a desire to connect with others fighting similar battles. We have a strong support system, but none of our friends and family had experience with cystic fibrosis-related conditions. I had looked to the CF Foundation often for research, but I didn’t know if they could help since she did not have a “true CF” diagnosis.
One day I saw a blog on abnormal cystic fibrosis. As I read the blog, I started sobbing as I felt like what the blogger was describing was my daughter. I didn’t feel alone anymore because I knew there was someone else out there living in the gray.
That blog gave me the boldness to reach out to the CF Foundation for support. Even though my child had different struggles, I found help navigating many of the challenges I had been navigating alone.
Elizabeth’s health is stable right now. We don’t know what the future holds. There are still many unanswered questions, but we walk in faith day by day.
We are thankful to be included in a community who accepts us despite clinical differences. My hope is to inspire other parents of children and adults living in the gray. I want them to know they are not alone. We are in this together.
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